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Journal Abstract Search

208 related items for PubMed ID: 20586924

  • 1. Homozygous type 2N R854W von Willebrand factor is poorly secreted and causes a severe von Willebrand disease phenotype.
    Castaman G, Giacomelli SH, Jacobi P, Obser T, Budde U, Rodeghiero F, Haberichter SL, Schneppenheim R.
    J Thromb Haemost; 2010 Sep; 8(9):2011-6. PubMed ID: 20586924
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  • 7. Diagnosis of von Willebrand disease type 2N: a simplified method for measurement of factor VIII binding to von Willebrand factor.
    Miller CH, Kelley L, Green D.
    Am J Hematol; 1998 Aug; 58(4):311-8. PubMed ID: 9692396
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  • 9. Laboratory diagnosis and molecular classification of von Willebrand disease.
    Gadisseur A, Hermans C, Berneman Z, Schroyens W, Deckmyn H, Michiels JJ.
    Acta Haematol; 2009 Aug; 121(2-3):71-84. PubMed ID: 19506352
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  • 10. Clinical and laboratory phenotype variability in type 2M von Willebrand disease.
    Doruelo AL, Haberichter SL, Christopherson PA, Boggio LN, Gupta S, Lentz SR, Shapiro AD, Montgomery RR, Flood VH.
    J Thromb Haemost; 2017 Aug; 15(8):1559-1566. PubMed ID: 28544236
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  • 13. Dominant type 1 von Willebrand disease caused by mutated cysteine residues in the D3 domain of von Willebrand factor.
    Eikenboom JC, Matsushita T, Reitsma PH, Tuley EA, Castaman G, Briët E, Sadler JE.
    Blood; 1996 Oct 01; 88(7):2433-41. PubMed ID: 8839833
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  • 18. Type 2M:Milwaukee-1 von Willebrand disease: an in-frame deletion in the Cys509-Cys695 loop of the von Willebrand factor A1 domain causes deficient binding of von Willebrand factor to platelets.
    Mancuso DJ, Kroner PA, Christopherson PA, Vokac EA, Gill JC, Montgomery RR.
    Blood; 1996 Oct 01; 88(7):2559-68. PubMed ID: 8839848
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  • 19. Two novel mutations, Q1053H and C1060R, located in the D3 domain of von Willebrand factor, are responsible for decreased FVIII-binding capacity.
    Hilbert L, Jorieux S, Proulle V, Favier R, Goudemand J, Parquet A, Meyer D, Fressinaud E, Mazurier C, INSERM Network on Molecular Abnormalities in von Willebrand Disease.
    Br J Haematol; 2003 Feb 01; 120(4):627-32. PubMed ID: 12588349
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  • 20. Type 2N von Willebrand disease: rapid genetic diagnosis of G2811A (R854Q), C2696T (R816W), T2701A (H817Q) and G2823T (C858F)--detection of a novel candidate type 2N mutation: C2810T (R854W).
    Bowen DJ, Standen GR, Mazurier C, Gaucher C, Cumming A, Keeney S, Bidwell J.
    Thromb Haemost; 1998 Jul 01; 80(1):32-6. PubMed ID: 9684781
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